### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FDXR) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FDXR" "ferredoxin reductase" "17" "q24-q25" "no" "NC_000017.10" "UD_132610922863" "" "https://www.LOVD.nl/FDXR" "" "1" "3642" "2232" "103270" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FDXR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-05 09:58:12" "00006" "2025-01-31 10:20:46" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025240" "FDXR" "transcript variant 1" "002" "NM_024417.2" "" "NP_077728.2" "" "" "" "-87" "1796" "1476" "72869156" "72858619" "00006" "2017-11-06 16:27:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05363" "ANOA;MMDS9A" "neuropathy, auditory, and optic atrophy" "AR" "617717" "" "autosomal recessive" "" "00006" "2017-12-29 14:15:12" "00006" "2024-11-25 10:17:09" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07137" "MMDS9B" "mitochondrial dysfunctions, multiple, syndrome, type 9B" "AR" "620887" "" "" "" "00006" "2024-11-25 10:01:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FDXR" "05363" "FDXR" "07137" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00147019" "" "" "" "4" "" "00006" "{PMID:Paul 2017:28965846}" "3-generation family, 4 affecteds (4F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam1" "00147020" "" "" "" "1" "" "00006" "{PMID:Paul 2017:28965846}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Algeria" "" "0" "" "" "" "Fam2Pat5" "00147021" "" "" "" "1" "" "00006" "{PMID:Paul 2017:28965846}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "Fam3Pat6" "00147022" "" "" "" "2" "" "00006" "{PMID:Paul 2017:28965846}" "2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents" "F" "no" "Azerbaijan;Russia" "" "0" "" "" "" "Fam3Pat7/8" "00458006" "" "" "" "2" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, brother/sister affected, unaffected heterozygous carrier parents" "F" "no" "Mexico" "" "0" "" "" "Hispanic" "Fam1Pa1(tII3)" "00458007" "" "" "00458006" "1" "" "00006" "{PMID:Peng 2017:29040572}" "brother" "M" "no" "Mexico" "" "0" "" "" "Hispanic" "Fam1Pat2(II2)" "00458008" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "Hispanic" "Pat2" "00458009" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00458010" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "2.3y" "0" "" "" "Hispanic" "Pat4" "00458011" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat5" "00458012" "" "" "" "2" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, affected brother/sister, unaffected parents" "F" "" "United States" "" "0" "" "" "" "FamPat6(II2)" "00458013" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Pat7" "00458014" "" "" "" "2" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 2 affected sisters, unaffected parents" "F" "yes" "Iran" "" "0" "" "" "" "Pat8" "00458015" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "3-generation family, 1 affected, unaffected parents" "M" "no" "United States" "" "0" "" "" "white" "Pat9" "00458016" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected parents" "F" "no" "" "" "0" "" "" "white" "Pat10" "00458017" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat11" "00458018" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat12" "00458019" "" "" "" "2" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "" "" "0" "" "" "Hispanic" "FamPat13(II2)" "00458023" "" "" "" "1" "" "00006" "{PMID:Slone 2018:30250212}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "Pat1" "00458024" "" "" "" "1" "" "00006" "{PMID:Slone 2018:30250212}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat2" "00458026" "" "" "" "2" "" "00006" "{PMID:Masnada 2023:37046037}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Gambia" "" "0" "" "" "" "FamPat1" "00458027" "" "" "00458026" "1" "" "00006" "{PMID:Masnada 2023:37046037}" "sister" "F" "yes" "Gambia" "" "0" "" "" "" "FamPat2" "00458030" "" "" "" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "F" "" "Germany" "" "0" "" "" "" "Pat1" "00458031" "" "" "" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "M" "" "Germany" "11m" "0" "" "" "" "Pat2" "00458032" "" "" "" "2" "" "00006" "{PMID:Stenton 2021:33348459}" "" "F" "" "Germany" "" "0" "" "" "" "Fam3Pat1" "00458033" "" "" "00458032" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "M" "" "Germany" "" "0" "" "" "" "Fam3Pat1" "00458034" "" "" "" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "M" "" "Poland" "17m" "0" "" "" "" "Pat4" "00458035" "" "" "" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "F" "" "France" "" "0" "" "" "" "Pat5" "00458036" "" "" "" "1" "" "00006" "{PMID:Stenton 2021:33348459}" "" "F" "" "" "" "0" "" "" "Hispanic" "Pat6" "00458141" "" "" "" "1" "" "00006" "{PMID:Wei 2023:37481223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "SRF-F1" "00458142" "" "" "" "1" "" "00006" "{PMID:Wei 2023:37481223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "SRF-F2" "00458143" "" "" "" "1" "" "00006" "{PMID:Wei 2023:37481223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "SRF-F3" "00458144" "" "" "" "1" "" "00006" "{PMID:Wei 2023:37481223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "SRF-F4" "00458145" "" "" "" "1" "" "00006" "{PMID:Wei 2023:37481223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "SRF-F5" "00458155" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "3-generation family, 1 affected, unaffected non carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1PatIII1" "00458156" "" "" "" "2" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 2 affected brothers, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2PatII2" "00458157" "" "" "00458156" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "brother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2PatII1" "00458158" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "3-generation family, 1 affected, unaffected non carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3PatIII1" "00458159" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected non carrier father" "M" "" "United States" "" "0" "" "" "" "Fam4PatII1" "00458160" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5PatII4" "00458161" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6PatII1" "00458162" "" "" "" "2" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7PatII3" "00458163" "" "" "00458162" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7PatII1" "00458164" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam8PatII1" "00458165" "" "" "" "1" "" "00006" "{PMID:Yang 2021:33742450}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00458168" "" "" "" "1" "" "00006" "{PMID:Hu 2023:36972934}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "" "patient" "00458169" "" "" "" "1" "" "00006" "{PMID:Kim 2024:39104018}" "4-generation family, 1 affected, unaffected heterozygous carrier relatives" "F" "" "Korea" "" "0" "" "" "" "SB1113Pat1825" "00458170" "" "" "" "1" "" "00006" "{PMID:Song 2021:34804873}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00461161" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F020P021II-1" "00461162" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F021P022II-1" "00461163" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F022P023II-2" "00461164" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F023P024II-1" "00461165" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F024P025II-1" "00461166" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F025P026II-1" "00461167" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F026P027II-1" "00461168" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F027P028II-1" "00461169" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F028P029II-1" "00461170" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F029P030II-1" "00461171" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F030P031II-1" "00461172" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F031P032II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00147019" "05363" "00147020" "05363" "00147021" "05363" "00147022" "05363" "00458006" "00198" "00458007" "00198" "00458008" "00198" "00458009" "00198" "00458010" "00198" "00458011" "00198" "00458012" "00198" "00458013" "00198" "00458014" "00198" "00458015" "00198" "00458016" "00198" "00458017" "00198" "00458018" "00198" "00458019" "00198" "00458023" "05611" "00458024" "05611" "00458026" "00198" "00458027" "00198" "00458030" "00198" "00458031" "00198" "00458032" "00198" "00458033" "00198" "00458034" "00198" "00458035" "00198" "00458036" "00198" "00458141" "04293" "00458142" "04293" "00458143" "04293" "00458144" "04293" "00458145" "04293" "00458155" "05611" "00458156" "05611" "00458157" "05611" "00458158" "05611" "00458159" "05611" "00458160" "05611" "00458161" "05611" "00458162" "05611" "00458163" "05611" "00458164" "05611" "00458165" "05162" "00458168" "00198" "00458169" "05086" "00458170" "04293" "00461161" "04293" "00461162" "04293" "00461163" "04293" "00461164" "04293" "00461165" "04293" "00461166" "04293" "00461167" "04293" "00461168" "04293" "00461169" "04293" "00461170" "04293" "00461171" "04293" "00461172" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04293, 05086, 05162, 05363, 05611, 07137 ## Count = 60 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}" "0000119736" "05363" "00147019" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119737" "05363" "00147020" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119738" "05363" "00147021" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119739" "05363" "00147022" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346456" "00198" "00458006" "00006" "Familial, autosomal recessive" "1.6y" "see paper; ..., no microcephaly; optic atrophy; MRI brain delayed myelination; no seizures; global development delay; regression; hypotonia; no spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346457" "00198" "00458007" "00006" "Familial, autosomal recessive" "1.6y" "see paper; ..., no microcephaly; optic atrophy; MRI brain abnormal corpus callosum, diffusion globi palladi, diffusion midbrain, diffusion of the central and cortical atrophy; no seizures; global development delay; regression; hypotonia; no spasticity; abnormal mitochondrial morphology, loss cristae" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346458" "00198" "00458008" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., no microcephaly; optic atrophy likely; MRI brain normal; EEG normal; no global development delay; no regression; spasticity; ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346459" "00198" "00458009" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity; movement disorder; abnormal shape" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346460" "00198" "00458010" "00006" "Familial, autosomal recessive" "2.3y" "see paper; ..., 2.3y-deceased; optic atrophy; MRI brain decreased corpus callosum, chronic extra-axial collections in bilateral frontal convexities abnormal frontal lobe; no seizures; EEG diffuse cerebral function; global development delay; regression; hypotonia; no spasticity; no ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346461" "00198" "00458011" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., microcephaly; optic atrophy; MRI brain increased cerebellar atrophy, decreased cerebral white matter, decreased basal ganglia, decreased signals globus palladia and substantia nigra; EEG severe encephalopathy; global development delay; regression; hypotonia; spasticity; elongated and abnormally shaped mitochondria, abnormal morphology" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346462" "00198" "00458012" "00006" "Familial, autosomal recessive" "1.8y" "see paper; ..., no optic atrophy; MRI brain abnormal basal ganglia and mesencephalic peduncles signal; no seizures; EEG normal; global development delay; regression; no hypotonia; spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346463" "00198" "00458013" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., microcephaly; optic atrophy; MRI brain cerebral atrophy, abnormal white matter periventricular signal; nfantile spasms, seizures; EEG chaotic background with spasm; global development delay; regression; no hypotonia; no spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346464" "00198" "00458014" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., microcephaly; no optic atrophy; global development delay; regression; no spasticity; ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346465" "00198" "00458015" "00006" "Familial, autosomal recessive" "15.5y" "see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity; no ataxia; increased mitochondrial number" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346466" "00198" "00458016" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., no microcephaly; optic atrophy likely; MRI brain swelling of the cerebellum; no seizures; global development delay; regression; hypotonia; no spasticity; ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346467" "00198" "00458017" "00006" "Familial, autosomal recessive" "1.8y" "see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; global development delay; no regression; hypotonia; abnormal movements" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346468" "00198" "00458018" "00006" "Familial, autosomal recessive" "2.5y" "see paper; ..., optic atrophy; MRI brain cerebral atrophy; seizures; EEG slow wave; global development delay; no regression; hypotonia; spasticity; ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346469" "00198" "00458019" "00006" "Familial, autosomal recessive" "0.3y" "see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "" "0000346473" "05611" "00458023" "00006" "Familial, autosomal recessive" "03y10m" "see paper; ..., 29w-birth emergency cesarean section (maternal pre-eclampsia)2m in neonatal intensive care unit; global developmental delay (speech, fine motor, gross motor skills); 2y-sudden onset of ataxia, MRI brain normal; speech delay, axial hypotonia, ataxic gait, nystagmus, poor vision; 3y10m-no regression, no seizures, ambulatory with orthotics, speech 3-4 word phrases" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "global developmental delay" "" "" "0000346474" "05611" "00458024" "00006" "Familial, autosomal recessive" "00y10m15d" "see paper; ..., 10.5m-deceased; 30w+6-birth cesarean section because (worsening maternal hypertension), weight 1130g, 2.5m in neonatal intensive care poor feeding, abdominal distension, initial respiratory distress syndrome; small optic nerves; MRI brain 2m-bilateral thin optic nerves, cerebellar vermis hypoplasia; 4m-bilateral cataracts, urogenital sinus, normal kidneys, normal bladder, normal uterus with gonads; 7m-bilateral immature ovarian parenchyma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346475" "00198" "00458026" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., 9y-nocturnal enuresis; 10y-walking disturbances; retinal dystrophy; no ophtalmoplegia; no nistagmus; no cataract; no microcephaly; no seizures; no pyramidal signs; no dystonia; no tremor; ataxia; lost deambulation; no hypotonia; no developmental delay; no developmental regression; no speech problems; no neuorosychiatric disordes; no recurrent infections; no clinical picture after infections; no encephalopatic episodes; optic neuropathy; acoustic neuropathy; peripheral neuropathy; sensory-motor neuropathy; MRI brain normal; MRI spinal cord normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "nocturnal enuresis" "" "" "0000346476" "00198" "00458027" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., 7y-severe abdominal pain, acute onset flaccid paralysis with loss of trunk control, autonomous deambulation, mild dysarthria, diffuse hypotonia, upper limb hyperreflexia, proximal weakness, lower limb areflexia, flaccid paralysis, dysesthesia, pain in distal regions; no retinal dystrophy; no ophtalmoplegia; no nistagmus; no cataract; no microcephaly; no seizures; pyramidal signs; no dystonia; no tremor; ataxia; lost deambulation; hypotonia; no developmental delay; no developmental regression; no speech problems; no neuorosychiatric disordes; recurrent infections; acute onset of flaccid paralysis; no encephalopatic episodes; optic neuropathy; no acustic neuropathy; peripheral neuropathy; sensory-motor neuropathy; slight chiasm and optic narves atrophy; MRI brain normal; MRI spinal cord T2 hyperintensity posterior columns, posterior roots contrast enhancement; CSF analisys normal; onset GBS-like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "severe abdominal pain" "" "" "0000346479" "00198" "00458030" "00006" "Familial, autosomal recessive" "" "see paper; ..., hearing impairment; optic atrophy; myopathy, hypotonia, ptosis, ophthalmoplegia; dystonia, ataxia, polyneuropathy; MRI brain basal ganglia lesions, bilateral optic atrophy; no infection related deterioration; type I diabetes mellitus, psychiatric disorder" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346480" "00198" "00458031" "00006" "Familial, autosomal recessive" "11m" "see paper; ..., 11m-deceased; no hearing impairment; optic atrophy; myopathy; developmental delay, seizures, nystagmus; MRI brain basal ganglia lesions, bilateral optic atrophy; infection related deterioration; anemia, raised CSF lactate, respiratory insufficiency" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "Leigh syndrome" "" "" "0000346481" "00198" "00458032" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., hearing impairment; no optic atrophy; microcephaly, developmental regression, movement disorder, ataxia; MRI brain normal; infection related deterioration" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346482" "00198" "00458033" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., no hearing impairment; no optic atrophy; microcephaly, movement disorder, ataxia; infection related deterioration" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346483" "00198" "00458034" "00006" "Familial, autosomal recessive" "17m" "see paper; ..., 17m-deceased; hearing impairment; optic atrophy; microcephaly, developmental regression, progressive encephalopathy, hypotonia; MRI brain delayed myelination, cerebral atrophy; no infection related deterioration; cataract, respiratory distress, feeding difficulties" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "encephalopathy with delayed myelination" "" "" "0000346484" "00198" "00458035" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., hearing impairment; optic atrophy; developmental regression, spasticity, ataxia; MRI brain cerebral atrophy, cerebellar atrophy, bilateral optic atrophy; no infection related deterioration" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346485" "00198" "00458036" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., no hearing impairment; optic atrophy; hypotonia; global developmental delay, developmental regression, non-ambulatory; MRI brain bilateral optic atrophy; no infection related deterioration; retinal dystrophy, strabismus" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "" "" "" "0000346585" "04293" "00458141" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., light perception oculus uterque (both eyes); night blindness; cataract; cystoid macular edema, thinning ganglion cell layer, discontinuous ellipsoid zone; pale optic nerves, attenuation of the retinal vessels 3) pepper pigmentation variation in the midperiphery retina; hypofluorescence corresponding pigmentation midperipheral retina, hyper autofluorescence ring around fovea; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; MRI brain cerebellar atrophy; ataxia; insomnia; movement disorder" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000346586" "04293" "00458142" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., finger count; night blindness; anterior segment normal; cystoid macular edema, outer retinal atrophy, centrally preserved segment ellipsoid zone; pale optic nerves, distinct spoke wheel pattern in fovea 3) pepper pigmentation on the midperiphery of the retina 4) Few branches of retinal vessels that appeared as white lines; spoke wheel pattern fovea surrounded by a ring of hyper autofluorescence, mottled hypofluorescence around fovea, hypofluorescence corresponding pigmentation peripheral retina; fundus angiography delayed filling; reduced to a small infra-nasal isle; ERG severely reduced scotopic and photopic responses; no hearing impairment; MRI brain normal; seizures; dizziness, fatigue, cold hands/feet; depression; sleeping problems; photophobic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000346587" "04293" "00458143" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., light perception0.4 oculus uterque (both eyes); night blindness; anterior segment normal; cystoid macular edema, outer retinal atrophy, discontinuousellipsoid zone; pale optic nerve in OS, grayish white pigmentation in the midperiphery; hyper autofluorescence ring around fovea, mottled hypofluorescence peripheral retina; ERG extinguished scotopic and photopic responses; no hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000346588" "04293" "00458144" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., light perception 0.12 OD, 0.15 OS; night blindness; anterior segment normal; outer retinal atrophy, discontinuous ellipsoid zone; pale optic nerves, extensive depigmentation of the retina 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, mottled hypofluorescence in almost entire retina; fundus angiography unfilled retinal vessels, widespread window defects; ERG extinguished scotopic and photopic responses; sensorineural hearing loss; recurrent papule; intellectual disability; binocular alternating exotropia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000346589" "04293" "00458145" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., light perception 0.05 OD, CF/60CM OS; no night blindness; anterior segment normal; normal; pale optic nerves, grayish white pigmentation in the midperiphery 3) attenuated retinal vessels that appeared as white lines; hyper autofluorescence ring around fovea, hypofluorescence corresponding pigmentation midperipheral retina; fundus angiography severe retinal vascular nonperfusion peripheral retina, without posterior pole involvement, widespread window defects; ERG severely reduced scotopic and photopic responses; no hearing impairment; encephalitis attack" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000346591" "05611" "00458155" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., 3y-optic atrophy; no hearing impairment; 11y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; 11y-dizziness; 12y-dizziness; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; 3y-nystagmus; 3y-squint; latest best corrected visual acuity hand motions; no constricted visual field; no nyctalopia" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346592" "05611" "00458156" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., 11y-optic atrophy; 11y-hearing impairment; ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 4y-no retinal dystrophy; 5y-macula edema; 11y-retinal vessels attenuation; 11y-cataract; no nystagmus; no squint; latest best corrected visual acuity light perception; constricted visual field; nyctalopia" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346593" "05611" "00458157" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., 14y-optic atrophy; Yes (late teens); ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 14y-no retinal dystrophy; no macula edema; 1yy-retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity 0.06 and 0.1; constricted visual field; no nyctalopia" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346594" "05611" "00458158" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., 7y-optic atrophy; 20y-hearing impairment; no ataxia/balance problems; no sensory neuropathy; no motor neuropathy; dizziness (late teens); 15y-dizziness; 7y-no retinal dystrophy; no macula edema; 8y-retinal vessels attenuation; 18y-cataract; 14y-nystagmus; 16y-squint; latest best corrected visual acuity hand motions and light perception; constricted visual field; nyctalopia" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346595" "05611" "00458159" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., 25y-optic atrophy; no hearing impairment; no ataxia/balance problems; 22y-sensory neuropathy; 22y-motor neuropathy; no dizziness; no tremor; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception fingercount and 6/36; no constricted visual field; no nyctalopia" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346596" "05611" "00458160" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., 40s-optic atrophy; 40s-hearing impairment; 40s-no ataxia/balance problems; 40s-sensory neuropathy; 40s-motor neuropathy; no dizziness; no tremor; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/36 and 6/24; no constricted visual field; no nyctalopia" "40y-49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346597" "05611" "00458161" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., childhood onset; >7y-optic atrophy; no hearing impairment; ataxia/balance problems (childhood); sensory neuropathy (childhood); no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; 18y-cataract; >7y-nystagmus; no squint" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346598" "05611" "00458162" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., 7y-optic atrophy; no hearing impairment; 2.5y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; 17y-macula edema; retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/12 and 6/18; constricted visual field" "2.5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346599" "05611" "00458163" "00006" "Familial, autosomal recessive" "10" "see paper; ..., 3.5y-optic atrophy; no hearing impairment; 15y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; no dizziness; no tremor; 3.5y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/36; constricted visual field" "3.5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346600" "05611" "00458164" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., 42y-optic atrophy; 42y-hearing impairment; 42y-ataxia/balance problems; 42y-sensory neuropathy; 42y-motor neuropathy; no dizziness; no tremor; possible no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" "" "" "0000346601" "05162" "00458165" "00006" "Familial, autosomal recessive" "" "see paper; ..., 36w-birth, weight 2,800 g (50th centile), OFC 34 cm (75th centile), unexplained jaundice; 9m-developmental delay, unable to lift head stably, unable to turnover, eyes do not track properly, hypotonia; MRI brain T1 signal globus pallidus both sides slightly higher, T2W signal paraventricular white matter both sides slightly higher, cerebral grooves each lobe cerebral hemisphere slightly deeper, ventricles both sides full, subarachnoid cavities both sides slightly wider, normal cerebellum/brain stem, midline structurenot displaced" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "developmental delay" "" "" "0000346604" "00198" "00458168" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondrial F-S disease" "" "" "0000346605" "05086" "00458169" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., childhood progressive hearing loss; postlingual progressive auditory neuropathy spectrum disorder, auditory neuropathy, optic atrophy; childhood visual impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "auditory neuropathy spectrum disorder" "" "" "0000346606" "04293" "00458170" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., 12y-blurred vision, visual acuity both eyes decreased gradually for 6m,stable thereafter; optic nerve atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "optic atrophy" "" "" "0000348661" "04293" "00461161" "00006" "Familial, autosomal recessive" "0.5y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV; bilateral cataract; developmental delay, hypotonia" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348662" "04293" "00461162" "00006" "Familial, autosomal recessive" "0.8y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; developmental delay" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348663" "04293" "00461163" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; intellectual disability" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348664" "04293" "00461164" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD normal light perception/OS normal light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; developmental delay, muscle weakness" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348665" "04293" "00461165" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD 0.05/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nystagmus; muscle weakness" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348666" "04293" "00461166" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.1/OS 0.025; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348667" "04293" "00461167" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD hand movement/OS hand movement; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348668" "04293" "00461168" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.3/OS 0.3; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nyctalopia, bilateral strabismus; hypotonia" "childhood" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348669" "04293" "00461169" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.03/OS light perception; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; electrophysiology severely reduced (rod/cone); bilateral nystagmus; hypotonia" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348670" "04293" "00461170" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.2/OS 0.25; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD, SRV/OS diffuse pale optic disc, ARV, sand-like retinal degeneration, SRV; bilateral nyctalopia; hypotonia" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348671" "04293" "00461171" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD hand movement/OS 0.04; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD/OS diffuse pale optic disc, ARV, sand-like retinal degeneration; electrophysiology severely reduced (rod/cone); hypotonia" "childhood" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348672" "04293" "00461172" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.08/OS 0.06; fundus oculi (first visit) OD diffuse pale optic disc, ARV, SRD/OS diffuse pale optic disc, ARV, sand-like retinal degeneration; electrophysiology moderately reduced (rod/cone); hypotonia" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147875" "00147019" "1" "00006" "00006" "2017-12-29 14:19:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147876" "00147020" "1" "00006" "00006" "2017-12-29 14:24:38" "" "" "SEQ" "DNA" "" "" "0000147877" "00147021" "1" "00006" "00006" "2017-12-29 14:28:55" "" "" "SEQ" "DNA" "" "" "0000147878" "00147022" "1" "00006" "00006" "2017-12-29 14:33:13" "" "" "SEQ" "DNA" "" "" "0000459626" "00458006" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459627" "00458007" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459628" "00458008" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459629" "00458009" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459630" "00458010" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459631" "00458011" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459632" "00458012" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459633" "00458013" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459634" "00458014" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459635" "00458015" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459636" "00458016" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459637" "00458017" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459638" "00458018" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459639" "00458019" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459641" "00458023" "1" "00006" "00006" "2024-11-25 17:47:04" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000459642" "00458024" "1" "00006" "00006" "2024-11-25 19:29:23" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459643" "00458026" "1" "00006" "00006" "2024-11-25 19:58:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459644" "00458027" "1" "00006" "00006" "2024-11-25 20:04:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459647" "00458030" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459648" "00458031" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459649" "00458032" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459650" "00458033" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459651" "00458034" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459652" "00458035" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459653" "00458036" "1" "00006" "00006" "2024-11-25 22:17:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459760" "00458141" "1" "00006" "00006" "2024-12-03 14:44:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459761" "00458142" "1" "00006" "00006" "2024-12-03 14:44:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459762" "00458143" "1" "00006" "00006" "2024-12-03 14:44:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459763" "00458144" "1" "00006" "00006" "2024-12-03 14:44:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459764" "00458145" "1" "00006" "00006" "2024-12-03 14:44:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459776" "00458155" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459777" "00458156" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459778" "00458157" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459779" "00458158" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459780" "00458159" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459781" "00458160" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459782" "00458161" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000459783" "00458162" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459784" "00458163" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459785" "00458164" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459786" "00458165" "1" "00006" "00006" "2024-12-03 16:46:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459789" "00458168" "1" "00006" "00006" "2024-12-03 18:54:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459790" "00458169" "1" "00006" "00006" "2024-12-03 19:03:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459791" "00458170" "1" "00006" "00006" "2024-12-03 19:14:48" "" "" "SEQ;SEQ-NG" "DNA" "" "wes" "0000462793" "00461161" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462794" "00461162" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462795" "00461163" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462796" "00461164" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462797" "00461165" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462798" "00461166" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462799" "00461167" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462800" "00461168" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462801" "00461169" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462802" "00461170" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462803" "00461171" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462804" "00461172" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000147875" "FDXR" "0000147876" "FDXR" "0000147877" "FDXR" "0000147878" "FDXR" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 112 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000241124" "3" "90" "17" "72860356" "72860356" "subst" "2.93125E-5" "00006" "FDXR_000001" "g.72860356G>A" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74864234G>A" "" "pathogenic" "" "0000241125" "1" "90" "17" "72860356" "72860356" "subst" "2.93125E-5" "00006" "FDXR_000001" "g.72860356G>A" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "" "" "0" "" "" "g.74864234G>A" "" "pathogenic" "" "0000241126" "1" "90" "17" "72859288" "72859288" "subst" "0" "00006" "FDXR_000002" "g.72859288G>A" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "" "" "0" "" "" "g.74863166G>A" "" "pathogenic" "" "0000241127" "21" "90" "17" "72860293" "72860293" "subst" "0" "00006" "FDXR_000003" "g.72860293G>T" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "" "" "0" "" "" "g.74864171G>T" "" "pathogenic" "" "0000241128" "11" "90" "17" "72860680" "72860680" "subst" "0" "00006" "FDXR_000004" "g.72860680G>A" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "" "" "0" "" "" "g.74864558G>A" "" "pathogenic" "" "0000241129" "1" "90" "17" "72861020" "72861020" "subst" "0" "00006" "FDXR_000005" "g.72861020G>C" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74864898G>C" "" "pathogenic" "" "0000241130" "2" "90" "17" "72858986" "72858986" "subst" "0" "00006" "FDXR_000006" "g.72858986C>T" "" "{PMID:Paul 2017:28965846}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74862864C>T" "" "pathogenic" "" "0000325606" "0" "50" "17" "72860158" "72860158" "subst" "0.00180551" "01804" "FDXR_000007" "g.72860158G>A" "" "" "" "FDXR(NM_001258012.2):c.1163C>T (p.(Thr388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74864036G>A" "" "VUS" "" "0000855083" "0" "30" "17" "72862613" "72862613" "subst" "0.00130367" "01943" "FDXR_000009" "g.72862613G>A" "" "" "" "FDXR(NM_001258012.3):c.477C>T (p.D159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865483" "0" "30" "17" "72860400" "72860400" "subst" "0.00217297" "01943" "FDXR_000008" "g.72860400G>A" "" "" "" "FDXR(NM_001258012.3):c.1001C>T (p.A334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969219" "0" "50" "17" "72862651" "72862651" "subst" "6.53104E-5" "02327" "FDXR_000010" "g.72862651G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003643" "0" "50" "17" "72859345" "72859345" "del" "0" "01804" "FDXR_000011" "g.72859345del" "" "" "" "FDXR(NM_001258012.1):c.1328delA (p.(Lys443fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017698" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "yes" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017699" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "yes" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017700" "21" "90" "17" "72868187" "72868187" "subst" "0" "00006" "FDXR_000035" "g.72868187A>G" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.151T>C" "" "Germline" "" "" "0" "" "" "g.74872062A>G" "" "pathogenic (recessive)" "" "0001017701" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017702" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017703" "21" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017704" "1" "90" "17" "72862333" "72862333" "subst" "0" "00006" "FDXR_000031" "g.72862333T>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.427A>T" "" "Germline" "" "" "0" "" "" "g.74866211T>A" "" "pathogenic (recessive)" "" "0001017705" "1" "90" "17" "72861050" "72861050" "subst" "0" "00006" "FDXR_000028" "g.72861050T>C" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.631A>G" "" "Germline" "" "" "0" "" "" "g.74864928T>C" "" "pathogenic (recessive)" "" "0001017706" "3" "90" "17" "72860090" "72860090" "subst" "8.12506E-6" "00006" "FDXR_000021" "g.72860090C>T" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1120G>A" "" "Germline" "" "" "0" "" "" "g.74863968C>T" "" "pathogenic (recessive)" "" "0001017707" "1" "90" "17" "72862288" "72862288" "subst" "8.13233E-6" "00006" "FDXR_000030" "g.72862288C>T" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.472G>A" "" "Germline" "" "" "0" "" "" "g.74866166C>T" "" "pathogenic (recessive)" "" "0001017708" "1" "90" "17" "72860347" "72860347" "subst" "4.60386E-5" "00006" "FDXR_000023" "g.72860347G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.944C>T (R315*)" "" "Germline" "" "" "0" "" "" "g.74864225G>A" "" "pathogenic (recessive)" "" "0001017709" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017710" "1" "90" "17" "72862288" "72862288" "subst" "8.13233E-6" "00006" "FDXR_000030" "g.72862288C>T" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.472G>A" "" "Germline" "" "" "0" "" "" "g.74866166C>T" "" "pathogenic (recessive)" "" "0001017711" "3" "90" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1147C>T" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "pathogenic (recessive)" "" "0001017712" "11" "90" "17" "72859234" "72859234" "subst" "0" "00006" "FDXR_000017" "g.72859234C>T" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1327G>A" "" "Germline" "" "" "0" "" "" "g.74863112C>T" "" "pathogenic (recessive)" "" "0001017713" "11" "90" "17" "72862955" "72862955" "subst" "1.62686E-5" "00006" "FDXR_000034" "g.72862955G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.221C>T" "" "Germline" "" "" "0" "" "" "g.74866833G>A" "" "pathogenic (recessive)" "" "0001017714" "2" "90" "17" "72860134" "72860134" "subst" "1.62532E-5" "00006" "FDXR_000022" "g.72860134C>T" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1076G>A" "" "Germline" "" "" "0" "" "" "g.74864012C>T" "" "pathogenic (recessive)" "" "0001017715" "2" "90" "17" "72859234" "72859234" "subst" "8.17361E-6" "00006" "FDXR_000018" "g.72859234C>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1327G>T" "" "Germline" "" "" "0" "" "" "g.74863112C>A" "" "pathogenic (recessive)" "" "0001017716" "2" "90" "17" "72861044" "72861044" "subst" "0" "00006" "FDXR_000027" "g.72861044T>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.637A>T" "" "Germline" "" "" "0" "" "" "g.74864922T>A" "" "pathogenic (recessive)" "" "0001017717" "2" "90" "17" "72859335" "72859335" "subst" "8.20331E-6" "00006" "FDXR_000019" "g.72859335G>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.1228C>T (P409L)" "" "Germline" "" "" "0" "" "" "g.74863213G>A" "" "pathogenic (recessive)" "" "0001017718" "2" "90" "17" "72860452" "72860452" "subst" "0" "00006" "FDXR_000024" "g.72860452T>A" "" "{PMID:Peng 2017:29040572}" "" "NM_004110.3:c.838A>T" "" "Germline" "" "" "0" "" "" "g.74864330T>A" "" "pathogenic (recessive)" "" "0001017724" "1" "90" "17" "72869069" "72869069" "subst" "0" "00006" "FDXR_000012" "g.72869069T>C" "" "{PMID:Slone 2018:30250212}" "" "" "" "Germline" "" "" "0" "" "" "g.74872944T>C" "" "pathogenic (recessive)" "" "0001017725" "2" "70" "17" "72862297" "72862297" "subst" "1.21976E-5" "00006" "FDXR_000013" "g.72862297G>A" "" "{PMID:Slone 2018:30250212}" "" "" "" "Germline" "" "" "0" "" "" "g.74866175G>A" "" "likely pathogenic (recessive)" "" "0001017726" "21" "90" "17" "72860343" "72860343" "del" "0" "00006" "FDXR_000014" "g.72860343del" "" "{PMID:Slone 2018:30250212}" "" "NM_004110.3:c.947delG" "" "Germline" "" "" "0" "" "" "g.74864221del" "" "pathogenic (recessive)" "" "0001017727" "11" "90" "17" "72861872" "72861872" "subst" "1.64326E-5" "00006" "FDXR_000015" "g.72861872C>T" "" "{PMID:Slone 2018:30250212}" "" "NM_004110.3:c.578G>A" "" "Germline" "" "" "0" "" "" "g.74865750C>T" "" "pathogenic (recessive)" "" "0001017728" "3" "90" "17" "72862297" "72862297" "subst" "1.21976E-5" "00006" "FDXR_000013" "g.72862297G>A" "" "{PMID:Masnada 2023:37046037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74866175G>A" "" "pathogenic (recessive)" "" "0001017729" "3" "90" "17" "72862297" "72862297" "subst" "1.21976E-5" "00006" "FDXR_000013" "g.72862297G>A" "" "{PMID:Masnada 2023:37046037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74866175G>A" "" "pathogenic (recessive)" "" "0001017732" "1" "50" "17" "72869035" "72869035" "subst" "0" "00006" "FDXR_000036" "g.72869035G>C" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74872910G>C" "" "VUS" "" "0001017733" "1" "50" "17" "72862629" "72862629" "subst" "0" "00006" "FDXR_000032" "g.72862629A>G" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74866507A>G" "" "VUS" "" "0001017734" "1" "50" "17" "72862636" "72862636" "subst" "4.07854E-6" "00006" "FDXR_000033" "g.72862636C>T" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74866514C>T" "" "VUS" "" "0001017735" "1" "50" "17" "72862636" "72862636" "subst" "4.07854E-6" "00006" "FDXR_000033" "g.72862636C>T" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.74866514C>T" "" "VUS" "" "0001017736" "1" "50" "17" "72860980" "72860980" "subst" "1.6255E-5" "00006" "FDXR_000025" "g.72860980C>A" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74864858C>A" "" "VUS" "" "0001017737" "3" "50" "17" "72861031" "72861031" "subst" "0" "00006" "FDXR_000026" "g.72861031G>A" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74864909G>A" "" "VUS" "" "0001017738" "3" "50" "17" "72860036" "72860036" "subst" "0.000175318" "00006" "FDXR_000020" "g.72860036G>A" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74863914G>A" "" "VUS" "" "0001017739" "2" "50" "17" "72860980" "72860980" "subst" "1.6255E-5" "00006" "FDXR_000025" "g.72860980C>A" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74864858C>A" "" "VUS" "" "0001017740" "2" "50" "17" "72861882" "72861893" "del" "0" "00006" "FDXR_000029" "g.72861882_72861893del" "" "{PMID:Stenton 2021:33348459}" "" "576delTCTGGACGTGGC" "" "Germline" "" "" "0" "" "" "g.74865760_74865771del" "" "VUS" "" "0001017741" "2" "50" "17" "72859200" "72859200" "subst" "8.2479E-6" "00006" "FDXR_000016" "g.72859200C>T" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74863078C>T" "" "VUS" "" "0001017742" "2" "50" "17" "72859200" "72859200" "subst" "8.2479E-6" "00006" "FDXR_000016" "g.72859200C>T" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.74863078C>T" "" "VUS" "" "0001017743" "2" "50" "17" "72860134" "72860134" "subst" "1.62532E-5" "00006" "FDXR_000022" "g.72860134C>T" "" "{PMID:Stenton 2021:33348459}" "" "" "" "Germline" "" "" "0" "" "" "g.74864012C>T" "" "VUS" "" "0001017882" "11" "70" "17" "72862578" "72862578" "subst" "4.1155E-6" "00006" "FDXR_000053" "g.72862578G>A" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74866456G>A" "" "likely pathogenic (recessive)" "" "0001017883" "21" "90" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74864210C>A" "" "pathogenic (recessive)" "" "0001017884" "11" "90" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74864210C>A" "" "pathogenic (recessive)" "" "0001017885" "11" "70" "17" "72860269" "72860269" "subst" "0" "00006" "FDXR_000046" "g.72860269C>T" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74864147C>T" "" "likely pathogenic (recessive)" "" "0001017886" "11" "90" "17" "72862288" "72862288" "subst" "8.13233E-6" "00006" "FDXR_000030" "g.72862288C>T" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74866166C>T" "" "pathogenic (recessive)" "" "0001017887" "21" "70" "17" "72860310" "72860310" "del" "0" "00006" "FDXR_000047" "g.72860310del" "" "{PMID:Wei 2023:37481223}" "" "963delG" "" "Germline" "" "" "0" "" "" "g.74864188del" "" "likely pathogenic (recessive)" "" "0001017888" "10" "70" "17" "72862377" "72862377" "subst" "0" "00006" "FDXR_000052" "g.72862377A>C" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74866255A>C" "" "likely pathogenic (recessive)" "" "0001017889" "21" "70" "17" "72860140" "72860141" "del" "0" "00006" "FDXR_000045" "g.72860140_72860141del" "" "{PMID:Wei 2023:37481223}" "" "1052_1053delTC" "" "Germline" "" "" "0" "" "" "g.74864018_74864019del" "" "likely pathogenic (recessive)" "" "0001017890" "21" "90" "17" "72860356" "72860356" "subst" "2.93125E-5" "00006" "FDXR_000001" "g.72860356G>A" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74864234G>A" "" "pathogenic (recessive)" "" "0001017891" "21" "90" "17" "72861873" "72861873" "subst" "2.05031E-5" "00006" "FDXR_000050" "g.72861873G>A" "" "{PMID:Wei 2023:37481223}" "" "" "" "Germline" "" "" "0" "" "" "g.74865751G>A" "" "pathogenic (recessive)" "" "0001017904" "21" "70" "17" "72861873" "72861873" "subst" "2.05031E-5" "00006" "FDXR_000050" "g.72861873G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74865751G>A" "" "likely pathogenic (recessive)" "" "0001017905" "11" "70" "17" "72860347" "72860347" "subst" "4.60386E-5" "00006" "FDXR_000023" "g.72860347G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864225G>A" "" "likely pathogenic (recessive)" "" "0001017906" "11" "70" "17" "72860347" "72860347" "subst" "4.60386E-5" "00006" "FDXR_000023" "g.72860347G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864225G>A" "" "likely pathogenic (recessive)" "" "0001017907" "11" "70" "17" "72862299" "72862299" "subst" "0" "00006" "FDXR_000051" "g.72862299G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74866177G>A" "" "likely pathogenic (recessive)" "" "0001017908" "10" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017909" "1" "70" "17" "72861049" "72861049" "subst" "1.21885E-5" "00006" "FDXR_000049" "g.72861049G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864927G>A" "" "likely pathogenic (recessive)" "" "0001017910" "1" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017911" "10" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017912" "10" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017913" "1" "70" "17" "72860680" "72860680" "subst" "0" "00006" "FDXR_000004" "g.72860680G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864558G>A" "" "likely pathogenic (recessive)" "" "0001017914" "10" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017915" "21" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017916" "21" "70" "17" "72860077" "72860077" "subst" "4.06441E-6" "00006" "FDXR_000044" "g.72860077G>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863955G>T" "" "likely pathogenic (recessive)" "" "0001017917" "21" "70" "17" "72860449" "72860449" "subst" "9.16204E-6" "00006" "FDXR_000048" "g.72860449G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864327G>A" "" "likely pathogenic (recessive)" "" "0001017918" "20" "70" "17" "72859264" "72859264" "subst" "8.16073E-6" "00006" "FDXR_000042" "g.72859264C>G" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863142C>G" "" "likely pathogenic (recessive)" "" "0001017919" "2" "70" "17" "72860449" "72860449" "subst" "9.16204E-6" "00006" "FDXR_000048" "g.72860449G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864327G>A" "" "likely pathogenic (recessive)" "" "0001017920" "1" "70" "17" "72814755" "72884308" "del" "0" "00006" "FDXR_000037" "g.72814755_72884308del" "" "{PMID:Jurkute 2021:33938912}" "" "chr17 74818633-74888183del" "" "Germline" "" "" "0" "" "" "g.74818633_74888183del" "" "likely pathogenic (recessive)" "" "0001017921" "21" "70" "17" "72859354" "72859354" "subst" "3.71551E-5" "00006" "FDXR_000043" "g.72859354C>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863232C>T" "" "likely pathogenic (recessive)" "" "0001017922" "21" "70" "17" "72859354" "72859354" "subst" "3.71551E-5" "00006" "FDXR_000043" "g.72859354C>T" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74863232C>T" "" "likely pathogenic (recessive)" "" "0001017923" "2" "70" "17" "72860356" "72860356" "subst" "2.93125E-5" "00006" "FDXR_000001" "g.72860356G>A" "" "{PMID:Jurkute 2021:33938912}" "" "" "" "Germline" "" "" "0" "" "" "g.74864234G>A" "" "likely pathogenic (recessive)" "" "0001017924" "21" "90" "17" "72862926" "72862926" "subst" "0" "00006" "FDXR_000038" "g.72862926G>A" "" "{PMID:Yang 2021:33742450}" "" "" "" "Germline" "" "" "0" "" "" "g.74866804G>A" "" "pathogenic (recessive)" "" "0001017925" "11" "90" "17" "72861047" "72861047" "subst" "0" "00006" "FDXR_000039" "g.72861047C>G" "" "{PMID:Yang 2021:33742450}" "" "NM_004110.3:c.634G>C" "" "Germline" "" "" "0" "" "" "g.74864925C>G" "" "pathogenic (recessive)" "" "0001017928" "21" "90" "17" "72862941" "72862941" "subst" "8.13445E-6" "00006" "FDXR_000040" "g.72862941G>A" "" "{PMID:Hu 2023:36972934}" "" "" "" "Germline" "" "" "0" "" "" "g.74866819G>A" "" "pathogenic (recessive)" "" "0001017929" "11" "90" "17" "72862651" "72862651" "subst" "6.53104E-5" "00006" "FDXR_000010" "g.72862651G>A" "" "{PMID:Hu 2023:36972934}" "" "" "" "Germline" "" "" "0" "" "" "g.74866529G>A" "" "pathogenic (recessive)" "" "0001017930" "3" "70" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Kim 2024:39104018}" "" "" "ACMG PM2, PM3_sup, PS3_sup, BP4" "Germline" "" "" "0" "" "" "g.74864210C>A" "" "VUS" "ACMG" "0001017931" "11" "70" "17" "72860090" "72860090" "subst" "8.12506E-6" "00006" "FDXR_000021" "g.72860090C>T" "" "{PMID:Song 2021:34804873}" "" "" "" "Germline" "" "" "0" "" "" "g.74863968C>T" "" "VUS" "" "0001017932" "21" "70" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Song 2021:34804873}" "" "" "" "Germline" "" "" "0" "" "" "g.74864210C>A" "" "VUS" "" "0001022380" "1" "70" "17" "72862941" "72862941" "subst" "8.13445E-6" "00006" "FDXR_000040" "g.72862941G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866819G>A" "" "likely pathogenic" "" "0001022381" "1" "90" "17" "72861872" "72861872" "subst" "1.64326E-5" "00006" "FDXR_000015" "g.72861872C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74865750C>T" "" "pathogenic" "" "0001022382" "1" "70" "17" "72862941" "72862941" "subst" "8.13445E-6" "00006" "FDXR_000040" "g.72862941G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866819G>A" "" "likely pathogenic" "" "0001022383" "1" "70" "17" "72862360" "72862360" "subst" "4.08197E-6" "00006" "FDXR_000060" "g.72862360C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866238C>T" "" "likely pathogenic" "" "0001022384" "1" "70" "17" "72862297" "72862297" "subst" "1.21976E-5" "00006" "FDXR_000013" "g.72862297G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866175G>A" "" "likely pathogenic" "" "0001022385" "1" "50" "17" "72860981" "72860981" "subst" "2.43831E-5" "00006" "FDXR_000059" "g.72860981G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PP3, PP4," "Germline" "" "" "0" "" "" "g.74864859G>A" "" "VUS" "" "0001022386" "1" "70" "17" "72862651" "72862651" "subst" "6.53104E-5" "00006" "FDXR_000010" "g.72862651G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866529G>A" "" "likely pathogenic" "" "0001022387" "1" "90" "17" "72862618" "72862618" "subst" "0" "00006" "FDXR_000061" "g.72862618T>C" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74866496T>C" "" "pathogenic" "" "0001022388" "1" "90" "17" "72860968" "72860968" "subst" "0" "00006" "FDXR_000058" "g.72860968A>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74864846A>G" "" "pathogenic" "" "0001022389" "1" "70" "17" "72862651" "72862651" "subst" "6.53104E-5" "00006" "FDXR_000010" "g.72862651G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866529G>A" "" "likely pathogenic" "" "0001022390" "1" "70" "17" "72862941" "72862941" "subst" "8.13445E-6" "00006" "FDXR_000040" "g.72862941G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866819G>A" "" "likely pathogenic" "" "0001022391" "1" "70" "17" "72862941" "72862941" "subst" "8.13445E-6" "00006" "FDXR_000040" "g.72862941G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866819G>A" "" "likely pathogenic" "" "0001022536" "2" "90" "17" "72862926" "72862926" "subst" "0" "00006" "FDXR_000038" "g.72862926G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866804G>A" "" "pathogenic" "" "0001022537" "2" "90" "17" "72861872" "72861872" "subst" "1.64326E-5" "00006" "FDXR_000015" "g.72861872C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74865750C>T" "" "pathogenic" "" "0001022538" "2" "70" "17" "72862651" "72862651" "subst" "6.53104E-5" "00006" "FDXR_000010" "g.72862651G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866529G>A" "" "likely pathogenic" "" "0001022539" "2" "70" "17" "72860355" "72860355" "subst" "1.25563E-5" "00006" "FDXR_000056" "g.72860355C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74864233C>T" "" "likely pathogenic" "" "0001022540" "2" "70" "17" "72860965" "72860965" "subst" "8.12876E-6" "00006" "FDXR_000057" "g.72860965T>C" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74864843T>C" "" "likely pathogenic" "" "0001022541" "2" "90" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74864210C>A" "" "pathogenic" "" "0001022542" "2" "70" "17" "72862651" "72862651" "subst" "6.53104E-5" "00006" "FDXR_000010" "g.72862651G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74866529G>A" "" "likely pathogenic" "" "0001022543" "2" "90" "17" "72860298" "72860298" "subst" "0" "00006" "FDXR_000055" "g.72860298C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74864176C>T" "" "pathogenic" "" "0001022544" "2" "90" "17" "72860449" "72860449" "subst" "9.16204E-6" "00006" "FDXR_000048" "g.72860449G>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74864327G>A" "" "pathogenic" "" "0001022545" "2" "90" "17" "72859349" "72859349" "subst" "0" "00006" "FDXR_000054" "g.72859349C>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP3, PP4," "Germline" "" "" "0" "" "" "g.74863227C>A" "" "pathogenic" "" "0001022546" "2" "90" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74864210C>A" "" "pathogenic" "" "0001022547" "2" "90" "17" "72860332" "72860332" "subst" "7.09622E-5" "00006" "FDXR_000041" "g.72860332C>A" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS1, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.74864210C>A" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FDXR ## Count = 112 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000241124" "00025240" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "9" "0000241125" "00025240" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "9" "0000241126" "00025240" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Gln419*)" "11" "0000241127" "00025240" "90" "979" "0" "979" "0" "c.979C>A" "r.(?)" "p.(Arg327Ser)" "9" "0000241128" "00025240" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Trp)" "8" "0000241129" "00025240" "90" "643" "0" "643" "0" "c.643C>G" "r.(?)" "p.(Leu215Val)" "7" "0000241130" "00025240" "90" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Glu477Lys)" "12" "0000325606" "00025240" "50" "1034" "0" "1034" "0" "c.1034C>T" "r.(?)" "p.(Thr345Met)" "" "0000855083" "00025240" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Asp116=)" "" "0000865483" "00025240" "30" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0000969219" "00025240" "50" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001003643" "00025240" "50" "1199" "0" "1199" "0" "c.1199del" "r.(?)" "p.(Lys400Argfs*8)" "" "0001017698" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017699" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017700" "00025240" "90" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Phe51Leu)" "" "0001017701" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017702" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017703" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017704" "00025240" "90" "427" "0" "427" "0" "c.427A>T" "r.(?)" "p.(Ile143Phe)" "" "0001017705" "00025240" "90" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Thr205Ala)" "" "0001017706" "00025240" "90" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" "" "0001017707" "00025240" "90" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Val158Met)" "" "0001017708" "00025240" "90" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309*)" "" "0001017709" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017710" "00025240" "90" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Val158Met)" "" "0001017711" "00025240" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017712" "00025240" "90" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "" "0001017713" "00025240" "90" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0001017714" "00025240" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Cys353Tyr)" "" "0001017715" "00025240" "90" "1309" "0" "1309" "0" "c.1309G>T" "r.(?)" "p.(Gly437Cys)" "" "0001017716" "00025240" "90" "619" "0" "619" "0" "c.619A>T" "r.(?)" "p.(Ile207Phe)" "" "0001017717" "00025240" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Pro403Leu)" "" "0001017718" "00025240" "90" "820" "0" "820" "0" "c.820A>T" "r.(?)" "p.(Lys274*)" "" "0001017724" "00025240" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001017725" "00025240" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Trp)" "" "0001017726" "00025240" "90" "929" "0" "929" "0" "c.929del" "r.(?)" "p.(Ser310Thrfs*19)" "" "0001017727" "00025240" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193His)" "" "0001017728" "00025240" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Trp)" "" "0001017729" "00025240" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Trp)" "" "0001017732" "00025240" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Trp)" "" "0001017733" "00025240" "50" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Val111Ala)" "" "0001017734" "00025240" "50" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Gly109Ser)" "" "0001017735" "00025240" "50" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Gly109Ser)" "" "0001017736" "00025240" "50" "683" "0" "683" "0" "c.683G>T" "r.(?)" "p.(Arg228Leu)" "" "0001017737" "00025240" "50" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Ala211Val)" "" "0001017738" "00025240" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0001017739" "00025240" "50" "683" "0" "683" "0" "c.683G>T" "r.(?)" "p.(Arg228Leu)" "" "0001017740" "00025240" "50" "564" "0" "576" "0" "c.564_576del" "r.(?)" "p.(Leu189_Ala192del)" "" "0001017741" "00025240" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0001017742" "00025240" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0001017743" "00025240" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Cys353Tyr)" "" "0001017882" "00025240" "70" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0001017883" "00025240" "90" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001017884" "00025240" "90" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001017885" "00025240" "70" "1002" "1" "1002" "1" "c.1002+1G>A" "r.spl" "p.?" "" "0001017886" "00025240" "90" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Val158Met)" "" "0001017887" "00025240" "70" "963" "0" "963" "0" "c.963del" "r.(?)" "p.(Arg322GlyfsTer7)" "" "0001017888" "00025240" "70" "394" "-11" "394" "-11" "c.394-11T>G" "r.(393_394ins394-10_394-1)" "p.?" "" "0001017889" "00025240" "70" "1052" "0" "1053" "0" "c.1052_1053del" "r.(?)" "p.(Leu351ProfsTer12)" "" "0001017890" "00025240" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0001017891" "00025240" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0001017904" "00025240" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0001017905" "00025240" "70" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0001017906" "00025240" "70" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0001017907" "00025240" "70" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ala154Val)" "" "0001017908" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017909" "00025240" "70" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0001017910" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017911" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017912" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017913" "00025240" "70" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Trp)" "" "0001017914" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017915" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017916" "00025240" "70" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Pro372His)" "" "0001017917" "00025240" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0001017918" "00025240" "70" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Ala427Pro)" "" "0001017919" "00025240" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0001017920" "00025240" "70" "-15239" "0" "45660" "0" "c.-15239_*44184del" "r.0" "p.0" "" "0001017921" "00025240" "70" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Ser)" "" "0001017922" "00025240" "70" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Ser)" "" "0001017923" "00025240" "70" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0001017924" "00025240" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Pro84Ser)" "" "0001017925" "00025240" "90" "616" "0" "616" "0" "c.616G>C" "r.(?)" "p.(Asp206His)" "" "0001017928" "00025240" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001017929" "00025240" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001017930" "00025240" "70" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001017931" "00025240" "70" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" "" "0001017932" "00025240" "70" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001022380" "00025240" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001022381" "00025240" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193His)" "" "0001022382" "00025240" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001022383" "00025240" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Arg)" "" "0001022384" "00025240" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Trp)" "" "0001022385" "00025240" "50" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Trp)" "" "0001022386" "00025240" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001022387" "00025240" "90" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Arg115Gly)" "" "0001022388" "00025240" "90" "695" "0" "695" "0" "c.695T>C" "r.(?)" "p.(Leu232Pro)" "" "0001022389" "00025240" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001022390" "00025240" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001022391" "00025240" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001022536" "00025240" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Pro84Ser)" "" "0001022537" "00025240" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193His)" "" "0001022538" "00025240" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001022539" "00025240" "70" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306His)" "" "0001022540" "00025240" "70" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Gln233Arg)" "" "0001022541" "00025240" "90" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001022542" "00025240" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001022543" "00025240" "90" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Asp)" "" "0001022544" "00025240" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0001022545" "00025240" "90" "1194" "0" "1194" "0" "c.1194G>T" "r.(?)" "p.(Trp398Cys)" "" "0001022546" "00025240" "90" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" "0001022547" "00025240" "90" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Val314Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 107 "{{screeningid}}" "{{variantid}}" "0000147875" "0000241124" "0000147876" "0000241125" "0000147876" "0000241126" "0000147877" "0000241127" "0000147877" "0000241128" "0000147878" "0000241129" "0000147878" "0000241130" "0000459626" "0001017698" "0000459627" "0001017699" "0000459628" "0001017700" "0000459628" "0001017712" "0000459629" "0001017701" "0000459630" "0001017702" "0000459631" "0001017703" "0000459631" "0001017713" "0000459632" "0001017704" "0000459632" "0001017714" "0000459633" "0001017705" "0000459633" "0001017715" "0000459634" "0001017706" "0000459635" "0001017707" "0000459635" "0001017716" "0000459636" "0001017708" "0000459636" "0001017717" "0000459637" "0001017709" "0000459638" "0001017710" "0000459638" "0001017718" "0000459639" "0001017711" "0000459641" "0001017724" "0000459641" "0001017725" "0000459642" "0001017726" "0000459642" "0001017727" "0000459643" "0001017728" "0000459644" "0001017729" "0000459647" "0001017732" "0000459647" "0001017739" "0000459648" "0001017733" "0000459648" "0001017740" "0000459649" "0001017734" "0000459649" "0001017741" "0000459650" "0001017735" "0000459650" "0001017742" "0000459651" "0001017736" "0000459651" "0001017743" "0000459652" "0001017737" "0000459653" "0001017738" "0000459760" "0001017882" "0000459760" "0001017887" "0000459761" "0001017883" "0000459761" "0001017888" "0000459762" "0001017884" "0000459762" "0001017889" "0000459763" "0001017885" "0000459763" "0001017890" "0000459764" "0001017886" "0000459764" "0001017891" "0000459776" "0001017904" "0000459776" "0001017914" "0000459777" "0001017905" "0000459777" "0001017915" "0000459778" "0001017906" "0000459778" "0001017916" "0000459779" "0001017907" "0000459779" "0001017917" "0000459780" "0001017908" "0000459780" "0001017918" "0000459781" "0001017909" "0000459781" "0001017919" "0000459782" "0001017910" "0000459782" "0001017920" "0000459783" "0001017911" "0000459783" "0001017921" "0000459784" "0001017912" "0000459784" "0001017922" "0000459785" "0001017913" "0000459785" "0001017923" "0000459786" "0001017924" "0000459786" "0001017925" "0000459789" "0001017928" "0000459789" "0001017929" "0000459790" "0001017930" "0000459791" "0001017931" "0000459791" "0001017932" "0000462793" "0001022380" "0000462793" "0001022536" "0000462794" "0001022381" "0000462794" "0001022537" "0000462795" "0001022382" "0000462795" "0001022538" "0000462796" "0001022383" "0000462796" "0001022539" "0000462797" "0001022384" "0000462797" "0001022540" "0000462798" "0001022385" "0000462798" "0001022541" "0000462799" "0001022386" "0000462799" "0001022542" "0000462800" "0001022387" "0000462800" "0001022543" "0000462801" "0001022388" "0000462801" "0001022544" "0000462802" "0001022389" "0000462802" "0001022545" "0000462803" "0001022390" "0000462803" "0001022546" "0000462804" "0001022391" "0000462804" "0001022547"